Cerebral amyloid angiopathy
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Greater than 10 families/probands with pathogenic PSEN1 variants leading to amyloid accumulation and cerebral amyloid angiopathy (CAA).
Sources: LiteratureCreated: 22 Nov 2022, 6:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cerebral amyloid angiopathy MONDO:0005620
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- cerebral amyloid angiopathy MONDO:0005620
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Early-onset Parkinson disease
- Leukodystrophy - adult onset
- Incidentalome
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Defects of intrinsic and innate immunity
- Additional findings_Paediatric
- Incidentalome_PREGEN_DRAFT
- Dystonia - complex
- BabyScreen+ newborn screening
- Cerebral amyloid angiopathy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psen1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psen1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: PSEN1 was added gene: PSEN1 was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 11701593; 11079548; 34319632 Phenotypes for gene: PSEN1 were set to cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: PSEN1 was set to Other Review for gene: PSEN1 was set to GREEN gene: PSEN1 was marked as current diagnostic